11 results
algorithm inbornerrors metabolism neonatology nicu table workup 21hydroxylasedeficiency 21ohd adult agammaglobulinemia age biliary cholangitis cirrhosis classification dementia developmentaldelay distress endocrinology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #IEM #NICU #InbornErrors
Signs and Symptoms of Respiratory Distress Through the Years. #signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary ... respiratory #distress #causes
Epiglottitis - Swollen inflamed epiglottis Clinical (Rapid onset) • Fever • Sore throat
#Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
Alzheimer - 1st cause ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... to produce all classes ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... intralobular bile ducts causes ... failure PBC Signs ... up to 70% • IgM ... bile ducts Differential
Age Distribution of Hypertension Etiologies < 1 month - Renal arterial thrombosis - Congenital renal disease -
- Mendelian genetic ... #Hypertension #Causes ... #differential # ... age #pediatrics ... #peds
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